About: developmental and epileptic encephalopathy 73

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal dominant disease developmental and epileptic encephalopathy nodeID://b50946290
label	developmental and epileptic encephalopathy 73
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0112209
database_cross_reference	OMIM:618379
has_exact_synonym	DEE73 early infantile epileptic encephalopathy 73
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in RNF13 on chromosome 3q25.1.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50946291

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